Primary Identifier | MGI:95410 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 13866 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables coreceptor activity and protein tyrosine kinase activity. Involved in several processes, including ERBB2 signaling pathway; nervous system development; and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within several processes, including negative regulation of immature T cell proliferation in thymus; nervous system development; and neuromuscular junction development. Located in apical plasma membrane; cytoplasmic vesicle; and myelin sheath. Part of semaphorin receptor complex. Is active in neuromuscular junction and presynaptic membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Used to study Hirschsprung's disease; breast cancer; and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in several diseases, including lung cancer (multiple); mammary Paget's disease; reproductive organ cancer (multiple); stomach cancer; and urinary system cancer (multiple). Orthologous to human ERBB2 (erb-b2 receptor tyrosine kinase 2). PHENOTYPE: Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5. [provided by MGI curators] |